Generalized hypotonia, and Nevus

Diseases related with Generalized hypotonia and Nevus

In the following list you will find some of the most common rare diseases related to Generalized hypotonia and Nevus that can help you solving undiagnosed cases.

Top matches:

Cardiofaciocutaneous syndrome (CFC) is a complex developmental disorder involving characteristic craniofacial features, cardiac anomalies, hair and skin abnormalities, postnatal growth deficiency, hypotonia, and developmental delay. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures (Schulz et al., 2008).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF

Low match CLN1 DISEASE

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). The patterns most often observed in CLN2 and CLN3 are 'curvilinear' and 'fingerprint' profiles, respectively. CLN4, CLN5, CLN6, CLN7, and CLN8 show mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).Zeman and Dyken (1969) referred to these conditions as the 'neuronal ceroid lipofuscinoses.' Goebel (1995) provided a comprehensive review of the NCLs and noted that they are possibly the most common group of neurodegenerative diseases in children.Mole et al. (2005) provided a detailed clinical and genetic review of the neuronal ceroid lipofuscinoses. Genetic Heterogeneity of Neuronal Ceroid LipofuscinosisSee also CLN2 (OMIM ), caused by mutation in the TPP1 gene (OMIM ) on chromosome 11p15; CLN3 (OMIM ), caused by mutation in the CLN3 gene (OMIM ) on 16p12; CLN4A (OMIM ), caused by mutation in the CLN6 gene (OMIM ) on 15q21; CLN4B (OMIM ), caused by mutation in the DNAJC5 gene (OMIM ) on 20q13; CLN5 (OMIM ), caused by mutation in the CLN5 gene (OMIM ) on 13q; CLN6 (OMIM ), caused by mutation in the CLN6 gene (OMIM ) on 15q21; CLN7 (OMIM ), caused by mutation in the MFSD8 gene (OMIM ) on 4q28; CLN8 (OMIM ) and the Northern epilepsy variant of CLN8 (OMIM ), caused by mutation in the CLN8 gene (OMIM ) on 8pter; CLN10 (OMIM ), caused by mutation in the CTSD gene (OMIM ) on 11p15; CLN11 (OMIM ), caused by mutation in the GRN gene (OMIM ) on 17q; CLN13 (OMIM ), caused by mutation in the CTSF gene (OMIM ) on 11q13; and CLN14 (OMIM ), caused by mutation in the KCTD7 gene (OMIM ) on 7q11.CLN9 (OMIM ) has not been molecularly characterized.A disorder that was formerly designated neuronal ceroid lipofuscinosis-12 (CLN12) is now considered to be a variable form of Kufor-Rakeb syndrome (KRS ).

CLN1 DISEASE Is also known as ceroid lipofuscinosis, neuronal, 1, variable age at onset

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLN1 DISEASE

Other less relevant matches:

Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME

Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.

NEUROCUTANEOUS MELANOCYTOSIS Is also known as neurocutaneous melanosis|neuromelanosis|ncm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEUROCUTANEOUS MELANOCYTOSIS

Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.

HEMIHYPERPLASIA-MULTIPLE LIPOMATOSIS SYNDROME Is also known as hhml

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Neoplasm


SOURCES: ORPHANET MENDELIAN

More info about HEMIHYPERPLASIA-MULTIPLE LIPOMATOSIS SYNDROME

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3 (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 Is also known as vogt-spielmeyer disease|batten disease|spielmeyer-sjogren disease|jncl|neuronal ceroid lipofuscinosis, juvenile

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Nystagmus
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3

Shashi-Pena syndrome is a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures (summary by Shashi et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about SHASHI-PENA SYNDROME; SHAPNS

Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017).

AL KAISSI SYNDROME; ALKAS Is also known as growth retardation, spine malformation, dysmorphic facies, and developmental delay

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about AL KAISSI SYNDROME; ALKAS

Autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of disorders that were classified clinically by Harding (1983). Progressive cerebellar ataxia is the primary feature. In ADCA I, cerebellar ataxia of gait and limbs is invariably associated with supranuclear ophthalmoplegia, pyramidal or extrapyramidal signs, mild dementia, and peripheral neuropathy. In ADCA II, macular and retinal degeneration are added to the features. ADCA III is a pure form of late-onset cerebellar ataxia. ADCA I includes SCA1 (OMIM ), SCA2, and SCA3, or Machado-Joseph disease (OMIM ). These 3 are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively.For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 2; SCA2 Is also known as wadia-swami syndrome|spinocerebellar ataxia, cuban type|olivopontocerebellar atrophy, holguin type|spinocerebellar degeneration with slow eye movements|olivopontocerebellar atrophy ii|spinocerebellar atrophy ii|cerebellar degeneration with slow eye moveme

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 2; SCA2

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Nevus

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cerebral atrophy Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Nevus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Mental deterioration Scoliosis Muscular hypotonia Epicanthus Abnormal facial shape Hypertelorism Parkinsonism Low-set ears Myoclonus Dementia Rod-cone dystrophy Cerebellar atrophy Ventriculomegaly Optic atrophy Behavioral abnormality Ataxia Flexion contracture Ptosis Hypoplasia of the corpus callosum Nystagmus

Rare Symptoms - Less than 30% cases

Kyphosis Short stature Visual impairment EEG abnormality Cognitive impairment Delayed speech and language development Neurodegeneration Sleep disturbance Posteriorly rotated ears Progressive visual loss Abnormality of the skeletal system Neoplasm Macular degeneration Nevus flammeus Progressive encephalopathy Visual loss Undetectable electroretinogram Deep palmar crease Psychomotor deterioration Vacuolated lymphocytes Intracellular accumulation of autofluorescent lipopigment storage material Increased neuronal autofluorescent lipopigment Broad nasal tip Abnormal cardiac septum morphology Cardiomyopathy Cataract Growth delay Downslanted palpebral fissures Failure to thrive Postnatal growth retardation Hypertrophic cardiomyopathy Encephalopathy Feeding difficulties in infancy Triangular face Retrognathia Pigmentary retinopathy Decreased body weight Depressivity Abnormal cerebellum morphology Retinal degeneration Melanocytic nevus Hypospadias Small hand Macrocephaly Microcephaly Motor delay Feeding difficulties Reduced bone mineral density Blindness Dystonia Tremor Broad-based gait Dysarthria Narrow forehead High, narrow palate Smooth philtrum Synophrys Hyperinsulinemia Wide nasal bridge High palate Depressed nasal bridge Abnormality of the pinna Intrauterine growth retardation Long philtrum Telecanthus Thin upper lip vermilion Pes planus Brachycephaly Clinodactyly Hyperlipidemia Spinocerebellar tract degeneration Elevated hepatic transaminase Accelerated skeletal maturation Progressive inability to walk Tapetoretinal degeneration Vegetative state Oromandibular dystonia Autophagic vacuoles Concentric hypertrophic cardiomyopathy Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Presenile cataracts Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Cerebral degeneration Increased extraneuronal autofluorescent lipopigment Atrial septal defect Cafe-au-lait spot Osteoporosis Proptosis Hypoglycemia Hemivertebrae Low-set, posteriorly rotated ears Autistic behavior Poor speech Long face Highly arched eyebrow Recurrent fractures Febrile seizures Pointed chin Pallor Short chin Pontocerebellar atrophy Limb ataxia Diplopia Fasciculations Truncal ataxia Oculomotor apraxia External ophthalmoplegia Downbeat nystagmus Drooling Central nervous system degeneration Hypopnea Poor head control Supranuclear ophthalmoplegia Dysmetric saccades Abnormality of extrapyramidal motor function Hypometric saccades Dilated fourth ventricle Dysdiadochokinesis Spinal muscular atrophy Postural tremor Impaired vibratory sensation Gaze-evoked nystagmus Resting tremor Poor coordination Urinary bladder sphincter dysfunction Action tremor Slow saccadic eye movements Olivopontocerebellar atrophy Progressive neurologic deterioration Bradykinesia Sacral dimple Neonatal hypotonia Severe intrauterine growth retardation Macrodontia Malar rash Nevus flammeus of the forehead Decreased head circumference Peripheral neuropathy Skeletal muscle atrophy Dysphagia Hyporeflexia Gait ataxia Difficulty walking Rigidity Abnormality of the eye Neuronal loss in central nervous system Apnea Retinopathy Ophthalmoplegia Abnormality of eye movement Dysmetria Distal amyotrophy Dyskinesia Sensory neuropathy Aspiration pneumonia Postural instability Progressive cerebellar ataxia Impaired horizontal smooth pursuit Chorea Pendular nystagmus Foot polydactyly Retinal atrophy Congenital cataract Peripheral visual field loss Loss of speech Visual hallucinations Motor deterioration Decreased light- and dark-adapted electroretinogram amplitude Strabismus Cleft palate Dilatation Hydronephrosis Sparse hair Short philtrum Everted lower lip vermilion Global brain atrophy Microcornea Tented upper lip vermilion Sparse eyebrow Hypertension Hydrocephalus Abnormality of the nervous system Dandy-Walker malformation Hemiparesis Thickened skin Abnormality of retinal pigmentation Generalized hirsutism Muscle fibrillation Progressive microcephaly Venous thrombosis Frontal bossing Pectus excavatum Abnormal heart morphology Hyperhidrosis Hyperkeratosis Wide mouth Pulmonic stenosis Curly hair Heat intolerance Hyperkeratosis pilaris Abnormality of the palpebral fissures Cryptorchidism Patent ductus arteriosus Hallucinations Delayed skeletal maturation Prominent forehead Ambiguous genitalia Finger clinodactyly Relative macrocephaly Pterygium Unilateral cryptorchidism Penoscrotal hypospadias Abnormality of metabolism/homeostasis Irritability Brain atrophy Postnatal microcephaly Cranial nerve paralysis Renal hypoplasia/aplasia Mildly elevated creatine phosphokinase Abnormal venous morphology Abnormality of the cerebral vasculature Seborrheic dermatitis Advanced eruption of teeth Abnormality of the lymphatic system Capillary malformation Hemimegalencephaly Epidermal nevus Macrodactyly 2-4 toe syndactyly Hyperparakeratosis Ovarian serous cystadenoma Hemimacroglossia Megalencephaly Elevated serum creatine phosphokinase Pneumonia Glaucoma Anxiety Confusion Memory impairment Generalized-onset seizure Psychosis Clumsiness Aspiration Mutism Hydrocele testis Enlarged kidney Arnold-Chiari malformation Spinal cord compression Melanoma Increased intracranial pressure Encephalitis Intracranial hemorrhage Chorioretinal coloboma Aplasia/Hypoplasia of the cerebellum Abnormality of neuronal migration Generalized hyperpigmentation Syringomyelia Arachnoid cyst Meningocele Meningioma Telangiectasia of the skin Astrocytoma Papilloma Choroid plexus papilloma Numerous congenital melanocytic nevi Syndactyly Polydactyly Microtia Joint hypermobility Overgrowth Nephroblastoma Multiple lipomas Lipoatrophy Palatal myoclonus


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